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Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous TUBGCP4 variants in homozygous state: c.1746G>T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of TUBGCP4. These results broaden the clinical spectrum of this new syndrome and suggest that TUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.

Objective Discuss the ethical dilemma of perpetrators requesting clinical evaluations intended to prove persecution or torture. The discussion is organized around three real cases. Method We present three cases of plausible perpetra- tors, partially amended to protect anonymity. The paper presents a review of the complex ethical challenges that the dilemma poses. A multidisciplinary panel of doctors, psychologists and lawyers had a similar discussion and agreed on three criteria presented here for contrast with the broader community of researchers and practitioners. The paper is not in itself a legal or ethical academic review, instead, it establishes the main terms of debate, demonstrates the lack of literature that debates it and reflects an initial consensus between forensic workers in an independent human rights organization.

Ser capaces de frenar impulsos que son inadecuados en un momento dado es una habilidad esencial en nuestras vidas. Esta habilidad se ha estudiado fundamentalmente en contextos simples que requieren inhibir una única respuesta ante un único estímulo. Sin embargo, en nuestro día a día es frecuente que tengamos que enfrentarnos a situaciones que requieren inhibir nuestras acciones ante unos estímulos, pero no ante otros. En este artículo presentamos los resultados de recientes estudios conductuales, cerebrales y genéticos sobre este tipo de inhibición, denominada selectiva, que nos ayudan a comprenderla y que abren la puerta a nuevas investigaciones.

Selective stopping is demanded in situations where responses must be suppressed to certain signals, but not others. To explore this type of inhibition, the standard stop-signal task has been modified to include a selective implementation of response inhibition by introducing a new stimulus that participants should ignore. However, a stimulus-selective stop-signal task can be performed following different strategies. Some participants fulfill the selective implementation of the stopping process after discriminating the stop and ignore signals, but some others stop the ongoing response whenever any new stimulus appears. The factors that influence this strategy choice are being explored, where both task and participant variables are under consideration. This study aimed to investigate whether the difficulty in discriminating between stop and ignore signals influences strategy adoption. Additionally, we examined whether participants modify their strategy in a flexible manner throughout the task in alternating easy and hard discrimination condition blocks. In the easy discrimination condition, the stop and the ignore signals differed both in color and shape, whereas in the hard discrimination condition, they only differed in shape. Our results from 64 participants revealed that manipulating the difficulty of signal discrimination strongly influenced strategy choice. Also, we found that participants can adapt their strategy according to task demands. They preferentially adopted a selective stopping strategy when discrimination was easy, whereas they changed to a nonselective stopping strategy under the hard discrimination condition. Overall, results from the current study suggest that signal discrimination difficulty influences the adoption of strategies in selective stopping.

This study aims to contribute to a better understanding of attention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder (attention and inhibitory control), symptomatology (inattention and hyperactivity/impulsivity) and functional impairment in 85 children and adolescents with ADHD without other comorbid disorders. We found, independent of general intellectual functioning and age, that i) greater attentional and inhibitory deficits predicted greater severity of ADHD symptoms, ii) greater attentional and inhibitory deficits predicted greater functional impairment, but not in a direct way but through symptoms, and iii) greater symptomatic severity predicted greater functional impairment. Beginning to explore and understand the complexity of ADHD is key to advance our knowledge of the disorder and for correct clinical decision making.Este estudio pretende contribuir a una mejor comprensión del trastorno por déficit de atención con hiperactividad (TDAH) examinado de manera exhaustiva la relación entre dos de los principales déficits cognitivos del trastorno (la atención y el control inhibitorio), la sintomatología (falta de atención e hiperactividad / impulsividad) y la repercusión funcional en 85 niños/as y adolescentes con TDAH sin otros trastornos comórbidos. Encontramos, con independencia del funcionamiento intelectual general y de la edad, que i) un mayor déficit atencional e inhibitorio, predijo una mayor gravedad de los síntomas del TDAH, ii) un mayor déficit atencional e inhibitorio predijo un mayor deterioro funcional, pero no de una manera directa sino a través de los síntomas, y iii) una mayor severidad sintomática predijo una mayor repercusión funcional. Comenzar a explorar y comprender la complejidad del TDAH es clave para avanzar en nuestro conocimiento del trastorno y para la correcta toma de decisiones clínicas.

Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). Most cases are characterized by intellectual disability, but a detailed neuropsychological profile has not yet been established. The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and neuropsychological phenotype. Whole exome trio analysis sequencing revealed a maternally inherited PQBP1 missense mutation in chromosome X [NM_001032383.1, c.727C > T (p.Arg243Trp)]. Variant functional studies demonstrated a significant reduction in the interaction between PQBP1 and the component of the nuclear pre-mRNA splicing machinery, U5-15KD. A comprehensive neuropsychological assessment revealed marked deficits in processing speed, attention and executive functioning (including planning, inhibitory control and working memory) without intellectual disability. Several components of language processing were also impaired. These results support that this mutation partially disrupts the function of this gene, which is known to play critical roles in embryonic and neural development. As most of the genomic PQBP1 abnormalities associated with intellectual disability have been found to be loss-of-function mutations, we hypothesize that a partial loss-of-function of this variant is associated with a mild behavioral and neuropsychological phenotype. Sin financiación 1.613 JCR (2021) Q4, 190/212 Clinical Neurology 0.325 SJR (2021) Q3, 241/350 Developmental and Educational Psychology No data IDR 2021 UEM

Although progress has been made in elucidating the behavioral and neural development of global stopping across the lifespan, little is known about the development of selective stopping. This more complex form of inhibitory control is required in real-world situations where ongoing responses must be inhibited to certain stimuli but not others, and can be assessed in laboratory settings using a stimulus selective stopping task. Here we used this task to investigate the qualitative and quantitative developmental changes in selective stopping in a large-scale cross-sectional study with three different age groups (children, preadolescents, and young adults). We found that the ability to stop a response selectively to some stimuli (i.e., use a selective strategy) rather than non-selectively to all presented stimuli (i.e., use a global, non-selective strategy) is fully mature by early preadolescence, and remains stable afterwards at least until young adulthood. By contrast, the efficiency or speed of stopping (indexed by a shorter stop-signal reaction time or SSRT) continues to mature throughout adolescence until young adulthood, both for global and selective implementations of stopping. We also provide some preliminary findings regarding which other task variables beyond the strategy and SSRT predicted age group status. Premature responding (an index of “waiting impulsivity”) and post-ignore slowing (an index of cognitive control) were among the most relevant predictors in discriminating between developmental age groups. Although present results need to be confirmed and extended in longitudinal studies, they provide new insights into the development of a relevant form of inhibitory control, This work was supported by grants PSI2017-84922-R (Ministerio de Economía y Competitividad (MINECO, Spain) and SI1/PJI/2019-00061 (Comunidad de Madrid, Spain; V PRICIT)

Background Scabies is a neglected tropical disease of the skin, causing severe itching, stigmatizing skin lesions and systemic complications. Since 2015, the DerMalawi project provide an integrated skin diseases clinics and Tele-dermatology care in Malawi. Clinic based data suggested a progressive increase in scabies cases observed. To better identify and treat individuals with scabies in the region, we shifted from a clinic-based model to a community based outreach programme. Methodology/Principal findings From May 2015, DerMalawi project provide integrated skin diseases and Tele-dermatological care in the Nkhotakota and Salima health districts in Malawi. Demographic and clinical data of all patients personally attended are recorded. Due to a progressive increase in the number of cases of scabies the project shifted to a community-based outreach programme. For the community outreach activities, we conducted three visits between 2018 to 2019 and undertook screening in schools and villages of Alinafe Hospital catchment area. Treatment was offered for all the cases and school or household contacts. Scabies increased from 2.9% to 39.2% of all cases seen by the DerMalawi project at clinics between 2015 to 2018. During the community-based activities approximately 50% of the population was assessed in each of three visits. The prevalence of scabies was similar in the first two rounds, 15.4% (2392) at the first visit and 17.2% at the second visit. The prevalence of scabies appeared to be lower (2.4%) at the third visit. The prevalence of impetigo appeared unchanged and was 6.7% at the first visit and 5.2% at the final visit. Conclusions/Significance Prevalence of scabies in our setting was very high suggesting that scabies is a major public health problem in parts of Malawi. Further work is required to more accurately assess the burden of disease and develop appropriate public health strategies for its control., Author summary Scabies is an infestation of the skin caused by a mite. There is limited data on how common scabies is in sub-Saharan Africa, including Malawi. The DerMalawi project has been providing care for dermatological conditions in rural Malawi since 2015. Between 2015 and 2018 we observed an increase in patients with scabies attending for treatment. In response the project shifted from providing care at clinics to an approach using community-based outreach. Between 2018 and 2019 we conducted community-based activities on three occasions in an area of approximately 30,000 individuals. The DerMalawi team visited schools and villages to identify and treat cases of scabies and their contacts. We were able to examine about 50% of the population on each visit. Initially a large proportion of the population had scabies (15%) and this was similar during our second community survey. At our third survey this appeared to have decreased to 2% but it is difficult for us to know if this is because of treatment given in the previous rounds. Scabies is a major problem in rural populations in Malawi and public health strategies are needed to reduce the disease burden.

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Emotional scenes are, along with facial expressions, the most employed stimuli in Affective Sciences. However, as compared to facial expressions, available emotional scene databases are scarce and, in some cases, obsolete and overused. This paper describes EmoMadrid ( http://www.psicologiauam.es/CEACO/EmoMadrid.htm ), an open access database currently consisting of 813 emotional pictures. Valence and Arousal of each of these pictures were assessed by an average sample of 146 volunteers per session, who evaluated an average of 155 pictures each. Total participants up to the present is 768. EmoMadrid includes information, not provided in other databases, on low order visual parameters such as spatial frequency, luminosity, and chromatic complexity. These parameters are of crucial interest, since they have been revealed to interact with the affective content of pictures. EmoMadrid shows a robust short and long term reliability (under and over 5 years, respectively) and has already been employed in 15 Human Neuroscience and Behavior published studies, despite it has only been described in its web page.

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities. Sin financiación 3.692 JCR (2021) Q2, 101/212 Clinical Neurology 0.997 SJR (2021) Q1, 480/2489 Medicine (miscellaneous) No data IDR 2021 UEM

Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype characteristics of this disorder. Here we describe a 3 years-old girl with distal myoclonic dystonia. Whole exome sequencing in trio revealed a de novo missense ANO3 variant not previously described in international databases. A global psychomotor regression was observed once dystonia was present. Brain MRI changes paralleled these findings: whereas MRI at the age of 18 months was normal, mild brain and cerebellar atrophy was observed 18 months later. These results suggest that missense mutations in ANO3 may underlie complex disorders particularly characterized by early psychomotor regression and dystonia. Sin financiación 2.708 JCR (2020) Q3, 107/176 Genetics & Heredity 0.896 SJR (2020) Q2, 1567340 Genetics No data IDR 2020 UEM

The main aim of this study was to investigate the development of selective inhibitory control in middle childhood, a critical period for the maturation of inhibition-related processes. To this end, 64 children aged 6–7 and 56 children aged 10–11 performed a stimulus-selective stop-signal task, which allowed us to estimate not only the efficiency of response inhibition (the stop-signal reaction time or SSRT), but also the strategy adopted by participants to achieve task demands. We found that the adoption of a non-selective (global) strategy characterized by stopping indiscrimi-nately to all stimuli decreased in older children, so that most of them were able to interrupt their ongoing responses selectively at the end of middle childhood. Moreover, compared to younger chil-dren, older children were more efficient in their ability to cancel an initiated response (indexed by a shorter SSRT), regardless of which strategy they used. Additionally, we found improvements in other forms of impulsivity, such as the control of premature responding (waiting impulsivity), and attentional-related processes, such as intra-individual variability and distractibility. The present results suggest that middle childhood represents a milestone in the development of crucial aspects of inhibitory control, including selective stopping, This work was supported by grants PSI2017-84922-R (Ministerio de Economía y Competitividad (MINECO, Spain) and SI1/PJI/2019-00061 (Comunidad de Madrid, Spain; V PRICIT)

Here, we review the recent literature on the use of neurofeedback in ADHD. We also discuss the progress and challenges in this field and offer future directions. There is promising and suggestive, but not conclusive, evidence suggesting that neurofeedback is an effective treatment for ADHD. Nonetheless, no firm conclusion about its clinical utility can be made because only a few neurofeedback trainings have been assessed. Novel approaches to acquiring and analyzing brain data have expanded the possibilities of neurofeedback for understanding and treating ADHD. At the basic level, neurofeedback represents an exciting new approach to complement descriptive neuroimaging ADHD research by providing evidence of specific causal brain-(dys)function relationships. At the clinical level, it represents a promising non-invasive intervention to normalize or compensate for neuropsychological/behavioral dsyfunctions associated with ADHD. Further, well-controlled studies are needed to examine the feasibility and effectiveness of traditional and new potentially useful neurofeedback trainings.

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied.A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children´s lifestyle habits (e.g, daily hours of sleep, media use and study).The groups had a similar socioeconomic background and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports.The results of this study suggest that children and adolescents with ADHD have different lifestyle habits compared to age- and sex-matched controls. These findings are not explained by comorbid disorders or medication/ psychological treatment.

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos ‐particularmente los relacionados con el aprendizaje y la ansiedad‐, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.

Memorizing emotional stimuli in a preferential way seems to be one of the adaptive strategies brought on by evolution for supporting survival. However, there is a lack of electrophysiological evidence on this bias in working memory. The present study analyzed the influence of emotion on the updating component of working memory. Behavioral and electrophysiological indices were measured from a 3-back task using negative, neutral, and positive faces. Electrophysiological data evidenced an emotional influence on the working memory sensitive P3 component, which presented larger amplitudes for negative matching faces compared to neutral ones. This effect originated in the superior parietal cortex, previously reported to be involved in N-back tasks. Additionally, P3 results showed a correlation with reaction times, where higher amplitudes were associated with faster responses for negative matching faces. These findings indicate that electrophysiological measures seem to be very suitable indices of the emotional influence on working memory.

Although response inhibition is thought to be important in borderline personality disorder (BPD), little is known about its neurophysiological basis. This study aimed to provide insight into this issue by capitalizaing on the high temporal resolution of electroencephalography and information provided by source localization methods. To this end, twenty unmedicated patients with BPD and 20 healthy control subjects performed a modified go/no-go task designed to better isolate the brain activity specifically associated with response inhibition. Event-related potentials (ERP) were measured and further analyzed at the scalp and source levels. Patients with BPD made more commission errors (failed inhibitions) than control subjects. Scalp ERP data showed that both groups displayed greater frontocentral P3 amplitude for no-go (response inhbition) than for go trials (response execution). However, source reconstruction data revealed that patients with BPD activated posterior parietal regions (precuneus) to inhibit their responses, whereas controls activated prefrontal regions (presupplementary motor area, preSMA). This dissociation was supported by a significant Region (precuneus, preSMA) x Trial Type (no-go, go) x Group (BPD, control) interaction. These findings extend our understanding of the neurophysiological basis of abnormal response inhibition in BPD, suggesting that patients with BPD recruit different brain regions for inhibiting prepotent responses compared to controls. Future research in larger, medication-naive samples of patients with BPD is required to confirm and extend these findings.

Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD). Concretely, recent data indicate that the 10-repeat (10R) DAT1 allele may mediate neuropsychological functioning, response to methylphenidate, and even brain function and structure in children with ADHD. This study aimed to investigate the influence of 10R DAT1 on thickness of the prefrontal cortex in children and adolescents with ADHD. To this end, brain magnetic resonance images were acquired from 33 patients with homozygosity for the 10R allele and 30 patients with a single copy or no copy of the allele. The prefrontal cortex of each MRI scan was automatically parceled into regions of interest (ROIs) based on Brodmann areas (BA). The two groups were matched for age, gender, IQ, ADHD subtype, symptom severity, comorbidity and medication status. However, patients with two copies of the 10R allele exhibited significantly decreased cortical thickness in right BA 46 relative to patients with one or fewer copies of the allele. No other prefrontal ROI differed significantly between the two groups. Present findings suggest that cortical thickness of right lateral prefrontal cortex (BA 46) is influenced by the presence of the DAT1 10 repeat allele in children and adolescents with ADHD.

BackgroundAlthough both emotion and response inhibition are thought to be important in attention-deficit/hyperactivity disorder (ADHD), little is known about the neural mechanisms that underlie the interaction between these two processes in patients with this disorder. This study aimed at examining how emotional contexts affect inhibitory control in children with ADHD.MethodA total of 24 ADHD children and 24 healthy comparison subjects performed a modified go/no-go task during three different emotionally laden contexts: negative, neutral and positive. To explore the timing and the underlying neural substrates of emotion-modulated response inhibition, event-related potentials were measured and further analysed both at the scalp and at the voxel level.ResultsPatients with ADHD showed greater activation of inhibition-related neural mechanisms (i.e. no-go P3 amplitudes and orbitofrontal cortex activity) to maintain a similar level of performance as healthy comparison subjects, especially during the emotionally arousing contexts (negative and positive).ConclusionsThis study provides plausible neural mechanisms for the difficulty that ADHD children have in controlling their behaviour in highly emotional situations. Such emotional contexts might increase the need for top-down inhibitory control and put ADHD children at greater risk for impulsive behaviours and emotional dysregulation.

Here we analyze how performance differences in an adaptive cognitive training regime based on the n-back task interact with emotional stimuli (scenes and faces) varying in their valence (negative, positive, and neutral). One hundred and three participants completed four training sessions across 2 weeks showing remarkable improvements from time to time. Results revealed similar results for faces and scenes regarding accuracy levels across increased complexity levels. However, reaction times (RTs) were sensitive to emotional conditions to some extent. Observed faster RTs to negative faces (disgust) were consistent with the negativity bias phenomenon, but this effect vanished for the highest levels of processing complexity. It is suggested that emotional information contents fail to interact with cognition when there are no cognitive resources left after the primary task is addressed.

Structural and functional brain studies on attention deficit/hyperactivity disorder (ADHD) have primarily examined anatomical abnormalities in the prefronto-striatal circuitry (especially, dorsal and lateral areas of the prefrontal cortex and dorsal striatum). There is, however, increased evidence that several temporal lobe regions could play an important role in ADHD. The present study used MRI-based measurements of cortical thickness to examine possible differences in both prefrontal and temporal lobe regions between medication-naive patients with ADHD ( N =50) and age- and sex-matched typically developing controls ( N =50). Subjects with ADHD exhibited significantly decreased cortical thickness in the right temporal pole and orbitofrontal cortex (OFC) relative to healthy comparison subjects. These differences remained significant after controlling for confounding effects of age, overall mean cortical thickness and comorbid externalizing conditions, such as oppositional defiant and conduct disorders. These results point to the involvement of the temporal pole and OFC in the neuropathology of ADHD. Moreover, present findings add evidence to the assumption that multiple brain regions and psychological processes are associated with ADHD.

Case report We describe an unusual clinical case with an 11Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS. Conclusions Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomichybridization(arrayCGH)shouldbeconsideredasafirstline test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.

Objective: This study aimed to examine the influence of dopamine transporter gene ( DAT1) 3’UTR genotype on cingulate cortical thickness in a large sample of children and adolescents with ADHD. Method: Brain MRIs were acquired from 46 ADHD patients with homozygosity for the 10-repeat allele and 52 ADHD patients with a single copy or no copy of the allele. The cingulate cortex of each MRI scan was automatically parceled into sulci and gyri as well as into Brodmann areas (BA). Results: There were no group differences in age, gender, full-scale intelligence quotient, symptom severity, treatment status, comorbidity, or mean overall cortical thickness. Sulcus/gyrus- and BA-based analyses revealed that patients homozygous for the 10-repeat allele showed significantly greater thickness in right cingulate gyrus and right BA 24 compared with 9-repeat carriers. Conclusion: These findings suggest that thickness of cingulate cortex is influenced by the presence of the 10-repeat allele in ADHD.

Negative stimuli have consistently been shown to efficiently attract exogenous attention. Two different types of unpleasant stimuli, disgusting and fearful, sharing similar arousal and valence, are usually employed as a single category. However, since they diverge in several important aspects (biological functionality, associated feelings, and central and peripheral physiological correlates), it may be expected that their potential to capture attention differs. Event-related potentials and behavioral indices were recorded while participants were engaged in a digit categorization task in response to three types of irrelevant, distracting pictures: disgusting, fearful and neutral. Disgusting trials were associated with worse performance than fearful trials in the digit categorization task as revealed by reaction times and number of errors. Moreover, P2-associated cuneus activation and scalp anterior P2 amplitude were greater for disgusting than for fearful distracters. All these indices reveal that, under the experimental conditions employed in the present study, disgusting distracters are more efficient at attracting exogenous attention than are fearful distracters.

Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous disorder that is characterized not only by cognitive deficits but also by affective dysfunctions, both motivational and emotional. Nevertheless, the neural bases of affective dysfunctions have barely been explored in relation to this disorder, in contrast to extensive research that examined the neural correlates of its main cognitive deficits (attention, response inhibition and working memory). This article reviews the available data regarding the neurobiological substrates of motivational and emotional alterations showed by children, adolescents and adults with ADHD. Practical implications derived from these data are discussed and future research directions from affective neuroscience are suggested.

Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comorbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos especificos del aprendizaje, trastornos de la comunicacion...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnosticos diferenciales se situan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comorbida. Se valorara, de acuerdo a la bibliografia, el papel de la valoracion clinica y la neuropsicologia en la distincion entre comorbilidad y mimetismo. Conclusiones. La valoracion clinica podria ser insuficiente para el diagnostico comorbido de los trastornos del neurodesarrollo. En estos casos, la valoracion neuropsicologica es generalmente necesaria; esta puede igualmente ofrecer hipotesis diagnosticas alternativas de la sintomatologia observada y, por tanto, ser util para el diagnostico diferencial.

The involvement of striatum in affective processes has been consistently reported in recent years. However, studies within this field have mainly focused on positive affect, revealing the involvement of striatum in reward situations. The present research aimed to explore the involvement of striatum in negative affect through fMRI. To that aim, participants (n=18) were presented with negative, positive and neutral pictures while they performed an indirect task, a strategy repeatedly recommended to avoid cognitive interferences. Positive and negative stimuli did not differ in their arousal levels, as assessed by participants themselves. Analyses of variance showed that caudate nucleus was sensitive to the emotional content of stimulation, negative pictures eliciting greater caudate responses than positive and neutral. Regression analyses indicated that both valence and arousal content of visual stimuli synergically contributed to explain the activation of caudate, whose strong response to negative pictures supports models proposing striatum as a key element in withdrawal situations.

Contrary to what occurs with negative pictures, negative words are, in general, not capable of interfering with performance in ongoing cognitive tasks in normal subjects. A probable explanation is the limited arousing power of linguistic material. Especially intense words (insults and compliments), neutral personal adjectives, and pseudowords were presented to 28 participants while they executed a lexical decision task. Insults were associated with the poorest performance in the task and compliments with the best. Amplitude of the late positive component of the event-related potentials, originating at parietal areas, was maximal in response to compliments and insults, but latencies were delayed in response to the latter. Results suggest that intense emotional words modulate ongoing cognitive processes through both bottom-up (attentional capture by insults) and top-down (facilitation of cognitive processing by arousing words) mechanisms.

Previous studies suggest that the magnocellular pathway, a visual processing system that rapidly provides low spatial frequency information to fast-responding structures such as the amygdala, is more involved in the processing of emotional facial expressions than the parvocellular pathway (which conveys all spatial frequencies). The present experiment explored the spatio-temporal characteristics of the spatial frequency modulation of affect-related neural processing, as well as its generalizability to non-facial stimuli. To that aim, the event-related potentials (ERPs) elicited by low-pass filtered (i.e., high spatial frequencies are eliminated) and intact non-facial emotional images were recorded from 31 participants using a 60-electrode array. The earliest significant effect of spatial frequency was observed at 135 ms from stimulus onset: N135 component of the ERPs. In line with previous studies, the origin of N135 was localized at secondary visual areas for low-pass filtered stimuli and at primary areas for intact stimuli. Importantly, this component showed an interaction between spatial frequency and emotional content: within low-pass filtered pictures, negative stimuli elicited the highest N135 amplitudes. By contrast, within intact stimuli, neutral pictures were those eliciting the highest amplitudes. These results suggest that high spatial frequencies are not essential for the initial affect-related processing of visual stimuli, which would mainly rely on low spatial frequency visual information. According to present data, high spatial frequencies would come into play later on.

Though neuropsychological data indicate that the right hemisphere (RH) plays a major role in metaphor processing, other studies suggest that, at least during some phases of this processing, a RH advantage may not exist. The present study explores, through a temporally agile neural signal—the event-related potentials (ERPs)—, and through source-localization algorithms applied to ERP recordings, whether the crucial phase of metaphor comprehension presents or not a RH advantage. Participants (n = 24) were submitted to a S1–S2 experimental paradigm. S1 consisted of visually presented metaphoric sentences (e.g., “Green lung of the city”), followed by S2, which consisted of words that could (i.e., “Park”) or could not (i.e., “Semaphore”) be defined by S1. ERPs elicited by S2 were analyzed using temporal principal component analysis (tPCA) and source-localization algorithms. These analyses revealed that metaphorically related S2 words showed significantly higher N400 amplitudes than non-related S2 words. Source-localization algorithms showed differential activity between the two S2 conditions in the right middle/superior temporal areas. These results support the existence of an important RH contribution to (at least) one phase of metaphor processing and, furthermore, implicate the temporal cortex with respect to that contribution. © 2004 Elsevier Ireland Ltd. All rights reserved.

The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient's clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient's familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols.Genetica aplicada a la practica clinica en trastornos del neurodesarrollo.Las evidencias geneticas de los trastornos del neurodesarrollo estan ampliamente sustentadas en la literatura medica. Los avances en la genetica y la tecnologia han incrementado la rentabilidad diagnostica de los estudios actuales de un 3-5% a un 30-40% en los pacientes con discapacidad intelectual o trastornos del espectro autista. En este sentido, los estudios por microarrays cromosomicos muestran un mayor poder diagnostico que las tecnicas convencionales (cariotipo, analisis de subtelomeros…). Los protocolos mas recientes en el apartado biomedico del estudio genetico de estos trastornos situan los microarrays cromosomicos como analisis de primera linea, recomendando otros estudios especificos segun las caracteristicas clinicas del paciente (sindrome X fragil, mutacion en PTEN...). En la evaluacion de otros trastornos del neurodesarrollo (trastorno por deficit de atencion/hiperactividad, trastornos del aprendizaje...), la realizacion de pruebas geneticas esta limitada y condicionada a las caracteristicas clinicas o antecedentes familiares o personales del paciente; incluso en estas situaciones, no existen protocolos de evaluacion o derivacion genetica.

Principles of perceptual grouping can be divided into intrinsic grouping cues, which are based on built-in properties of the grouped elements (e.g., their shape, position, colour, etc.) like most of the classical Gestalt laws, and extrinsic grouping principles, based on relations between the discrete elements and other external stimuli that induce them to group (e.g., common region, connectedness). Several studies have explored the neural correlates of intrinsic grouping factors but, to our knowledge, no previous study has studied the neural correlates of extrinsic principles. The present study aimed to shed light on this issue by exploiting the high temporal resolution of event-related potentials (ERPs) and recent advances in source localization. Specifically, grouping by common region was compared with two comparison conditions, an intrinsic grouping (luminance similarity) and a uniform stimulus condition, in a perceptual discrimination task. We reported three main neural effects associated with grouping by common region. First, a posterior N210 component with a neural origin in the left extrastriate cortex was related to perceptual analysis of extrinsic elements inducing grouping and the formation of a visual group. Second, an enhanced posterior P280, which presumably reflects higher confidence decisions during response selection. Finally, a P550 originated in the right superior parietal cortex that seems to be associated with top-down suppression activity connected with the termination of the processing of the current trial. Overall, our results suggest that common region cues belong to the category of long latency grouping principles that mainly involve activity in extrastriate cortices.

LBX1 plays a cardinal role in neuronal and muscular development in animal models. Its function in humans is unknown; it has been reported as a candidate gene for idiopathic scoliosis. Our goal is to document the first clinical case of a microduplication at 10q24.31 (chr10:102927883-103053612, hg19), affecting exclusively LBX1. The patient, a 12-year-old girl, showed attention problems, dyspraxia, idiopathic congenital scoliosis, and marked hypotrophy of paravertebral muscles. Her paternal aunt had a severe and progressive myopathy with a genetic study that revealed the same duplication. We propose to consider genetic studies, particularly of LBX1, in patients with scoliosis and/or hypotrophy-hypoplasia of paravertebral muscles of unknown etiology.

Las evidencias genéticas de los trastornos del neurodesarrollo están ampliamente sustentadas en la literatura médica. Los avances en la genética y la tecnología han incrementado la rentabilidad diagnóstica de los estudios actuales de un 3-5% a un 30-40% en los pacientes con discapacidad intelectual o trastornos del espectro autista. En este sentido, los estudios por microarrays cromosómicos muestran un mayor poder diagnóstico que las técnicas convencionales (cariotipo, análisis de subtelómeros…). Los protocolos más recientes en el apartado biomédico del estudio genético de estos trastornos sitúan los microarrays cromosómicos como análisis de primera línea, recomendando otros estudios específicos según las características clínicas del paciente (síndrome X frágil, mutación en PTEN...). En la evaluación de otros trastornos del neurodesarrollo (trastorno por déficit de atención/hiperactividad, trastornos del aprendizaje...), la realización de pruebas genéticas está limitada y condicionada a las características clínicas o antecedentes familiares o personales del paciente; incluso en estas situaciones, no existen protocolos de evaluación o derivación genética, The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient’s clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient’s familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols

Although divergences between explicit and implicit processing of affective content during word comprehension have been reported, the underlying nature of those differences remains in dispute. Prior studies focused on either the timing or the spatial location of the effects. The present study examined the precise dynamics of the processing of negative words when attention is directed to affective content or to nonemotional properties by capitalizing on fine temporal resolution of the event-related potentials (ERPs) and recent advances in source localization. Tasks were used that required accessing knowledge about different semantic properties of negative and neutral words. In the direct task, participants’ attention was directed towards emotional information. By contrast, subjects had to decide whether the words’ referent could be touched or not in the indirect task. Regardless of being processed explicitly or implicitly, negative compared to neutral words were associated with more errors and greater key pressure responses. Electrophysiologically, affective processing was reflected in larger amplitudes to negative words in a late positive component (LPC) at the scalp level, and in increased activity in the pre-supplementary motor area (pre-SMA) at the voxel level. Interestingly, an interaction between emotion and type of task was observed. Negative words were associated with more errors, larger anterior distributed LPC amplitudes and increased activity in the posterior cingulate cortex (PCC) in the direct compared to the indirect task. This LPC effect was modulated by the concreteness of the words. Finally, a task effect was found in a posterior negativity around 220 ms, with enhanced amplitudes to words in the direct compared to the indirect task. The present results suggest that negative information contained in written language is processed irrespective of controlled attention is directed to it or not, but that this processing is reinforced in the former case.

Mechanisms underlying exogenous attention to central and peripheral distracters were temporally and spatially explored while 30 participants performed a digit categorization task. Neural (event-related potentials-ERPs-, analyzed both at the scalp and at the voxel level) and behavioral indices of exogenous attention were analyzed. Distracters were either biologically salient or neutral, in order to test whether the exogenous attention bias to the former observed in previous studies is independent of, or interacts with, distracter eccentricity. Two subcomponents of the N2 component of the ERPs, N2olp and N2ft, reflected processes related to peripheral distracters processing. N2olp effects, located in the dorsal attention network (supplementary motor area), were probably related to covert reorientation to peripheral distracters. N2ft effects, located in the default mode network (posterior cingulate cortex), appeared to reflect less effort in the ongoing task when peripheral distracters were presented. N2ft also showed a biological saliency effect which was independent of eccentricity and was located in the polar/ventral prefrontal cortex. P3 showed greater amplitudes to centrally presented distracters. These latter effects were located in TEO (visual cortex), and would be functionally associated with spatial interference between the target and central distracters. Behavior showed the relevance of both central and peripheral distracters in exogenous attention. These results indicate that exogenous attention to peripheral distracters differed in temporal and spatial terms from exogenous attention to central distracters and that it is biased towards biologically salient events irrespective of their eccentricity.

Introduccion. El desarrollo de la resonancia magnetica estructural y de nuevos metodos de analisis ha permitido examinar, como nunca antes, las bases neuroanatomicas del trastorno por deficit de atencion/hiperactividad (TDAH). No obstante, poco se sabe todavia sobre la relacion de los sintomas clinicos y las disfunciones neuropsicologicas caracteristicas del TDAH con las alteraciones neuroanatomicas observadas. Objetivo. Explorar la relacion entre neuroanatomia, clinica y neuropsicologia en el TDAH. Desarrollo. A nivel de grupo, existen diferencias marcadas entre el cerebro de ninos adolescentes y adultos con TDAH y el cerebro de personas con desarrollo tipico. Estas diferencias se observan transversal y longitudinalmente en todas las medidas, tanto de la sustancia gris como de la sustancia blanca. Aunque todavia escasa, cada vez existe mayor evidencia que senala que estas diferencias se relacionan con los sintomas nucleares del trastorno y con el grado de disfuncion clinica. Tambien parecen asociarse con el funcionamiento cognitivo (principalmente, atencion y control inhibitorio). Conclusiones. La relacion entre los distintos niveles de analisis de estudio del TDAH acerca la investigacion a la clinica y permite comprender y tratar mejor el trastorno. Aunque el avance en este campo es innegable, todavia son muchas las cuestiones que hay que explorar y profundizar en mayor detalle. Se requiere comprender mejor la asociacion entre las medidas neuroanatomicas y cada dimension sintomatologica, y la relacion con otros procesos neuropsicologicos tambien implicados en el trastorno.

article i nfo Despite an extensive literature on the neural substrates of response inhibition, when and where this process occurs in the brain remain unclear. The present study aimed to shed light on this issue by exploiting the high temporal resolution of the event-related potentials (ERPs) and recent advances in source localization. Temporo-spatial principal component analysis was employed to define more precisely the two ERP compo- nents most often associated with response inhibition (i.e., frontocentral N2 and frontocentral P3), as well as to improve the accuracy of source localization. In addition, participants (N = 40) performed a modified Go/ Nogo task composed of three types of stimuli (frequent-Go, infrequent-Go, and infrequent-Nogo), which allowed us to dissociate neural activity associated with response inhibition from that related to novelty pro- cessing by directly contrasting nogo and go trials matched with respect to frequency of occurrence. Scalp ERP data indicated that the frontocentral P3, but not the frontocentral N2, showed larger amplitudes for infrequent-Nogo than for infrequent-Go trials. Source localization data parallel the results obtained at the scalp level: only P3-related activity showed differences between infrequent-Nogo and infrequent-Go trials. This increased activation was observed predominantly in the presupplementary motor area (preSMA). Present results suggest that the frontocentral P3 and the preSMA play a core role in response inhibition. The findings of this study substantiate and complement previous results obtained by hemodynamic procedures.

The capacity of the two types of non-symbolic emotional stimuli most widely used in research on affective processes, faces and (non-facial) emotional scenes, to capture exogenous attention, was compared. Negative, positive and neutral faces and affective scenes were presented as distracters to 34 participants while they carried out a demanding digit categorization task. Behavioral (reaction times and number of errors) and electrophysiological (event-related potentials-ERPs) indices of exogenous attention were analyzed. Globally, facial expressions and emotional scenes showed similar capabilities to attract exogenous attention. Electrophysiologically, attentional capture was reflected in the P2a component of ERPs at the scalp level, and in left precentral areas at the source level. Negatively charged faces and scenes elicited maximal P2a/precentral gyrus activity. In the case of scenes, this negativity bias was also evident at the behavioral level. Additionally, a specific effect of facial distracters was observed in N170 at the scalp level, and in the fusiform gyrus and inferior parietal lobule at the source level. This effect revealed maximal attention to positive expressions. This facial positivity offset was also observed at the behavioral level. Taken together, the present results indicate that faces and non-facial scenes elicit partially different and, to some extent, complementary exogenous attention mechanisms.

Although, in everyday life, patients with attention deficit hyperactivity disorder (ADHD) are frequently distracted by goal-irrelevant affective stimuli, little is known about the neural and behavioral substrates underlying this emotional distractibility. Because some of the most important brain responses associated with the sudden onset of an emotional distracter are characterized by their early latency onset and short duration, we addressed this issue by using a temporally agile neural signal capable of detecting and distinguishing them. Specifically, scalp event-related potentials (ERPs) were recorded while 20 boys with ADHD combined type and 20 healthy comparison subjects performed a digit categorization task during the presentation of three types of irrelevant, distracting stimuli: arousing negative (A-), neutral (N) and arousing positive (A+). Behavioral data showed that emotional distracters (both A- and A+) were associated with longer reaction times than neutral ones in the ADHD group, whereas no differences were found in the control group. ERP data revealed that, compared with control subjects, boys with ADHD showed larger anterior N2 amplitudes for emotional than for neutral distracters. Furthermore, regression analyses between ERP data and subjects' emotional ratings of distracting stimuli showed that only in the ADHD group, emotional arousal (ranging from calming to arousing) was associated with anterior N2: its amplitude increased as the arousal content of the visual distracter increased. These results suggest that boys with ADHD are more vulnerable to the distracting effects of irrelevant emotional stimuli than control subjects. The present study provides first data on the neural substrates underlying emotional distractibility in ADHD.

Resumen —El granuloma facial es una rara enfermedad de origen desconocido que se caracteriza por presentar lesiones infiltradas localizadas fundamentalmente en la extremidad cefalica que muestran gran resistencia a los tratamientos medicos y quirurgicos. Los modernos tratamientos laser permiten su extirpacion con un dano minimo a los tejidos circundantes. Los mas utilizados han sido los de argon, dioxido de carbono y pulsado de colorantes. Se describe un caso de granuloma facial tratado con laser de dioxido de carbono superpulsado, con buenos resultados esteticos finales y ausencia de recidivas despues de 2 anos de control postoperatorio.

Long term potentiation (LTP) is defined as a long-lasting enhancement in communication between two neurons after the delivery of high frequency trains of electrical stimulation. This adjustment in synaptic efficacy is the physiological process that sustains learning and memory. However, few studies have addressed the existence of a similar phenomenon in the human cortex, even though it has been investigated for more than 30 years using animal models.The present review illustrates the state of the LTP-like phenomenon recently described in humans, and the possibility of ascribing the known mechanisms of LTP to the human cortex.A detailed knowledge of synaptic plasticity in the human cortex will facilitate a smooth translation of a wealth of physiological and molecular information and will have a major impact in the development and design of pharmacological agents intended as cognitive enhancers. We argue for the need of more focused experimental research on this particularly important area of neuroplasticity.